Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1400419650
rs1400419650
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs771237928
rs771237928
NOTCH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514461
rs397514461
SHOX
0.010 GeneticVariation BEFREE In all studied families, the A170P mutation co-segregated with the fully penetrant phenotype of mesomelic limb shortening and Madelung deformity. 21712857

2011